Article
Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome.
American journal of medical genetics - 28 May 1999
Taylor A K, Tassone F, Dyer P N, Hersch S M, Harris J B, Greenough W T, Hagerman R J
Abstract excerpt
Few studies have been conducted comparing the FMR1 mutation in multiple tissues of individuals affected with fragile X syndrome. We report a postmortem study of the FMR1 mutation in multiple tissues from a high-functioning male with fragile X syndrome. This man was not mentally retarded and had only a few manifestations of the disorder such as learning disabilities and mild attention problems. Southern blot...
Topics
- Aged
- Brain
- Dendrites
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- Immunohistochemistry
- Male
- Mutation
- Nerve Tissue Proteins
- RNA-Binding Proteins
- Tissue Distribution